Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V... |
ORPHA:568051 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis |
OMIM:606690 |
Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:153200 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... |
OMIM:153100 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Generalized edema, Peritoneal effusion, Edema, Pericardial effus... |
ORPHA:90362 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Gonadal dysgenesis, Retinal dysplasia |
OMIM:615041 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Pallor, Anemia,... |
ORPHA:163596 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Lipedema |
|
Edema |
OMIM:614103 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... |
ORPHA:848 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... |
ORPHA:3226 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lym... |
ORPHA:464329 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema |
OMIM:152800 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H... |
ORPHA:2330 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropen... |
OMIM:603552 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Stroke, Pallor |
ORPHA:90064 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema |
OMIM:616006 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly |
OMIM:613561 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Coarctation of aorta, Anemia, Hepatosplenomegaly, Cirrhosis, Premature sk... |
ORPHA:101028 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia, Edema |
OMIM:189800 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thrombo... |
ORPHA:2123 |
Polycythemia Vera |
|
Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell m... |
OMIM:263300 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia... |
OMIM:607616 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo... |
OMIM:613101 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Edema, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lymphangiectasis |
OMIM:602579 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Dehydration, Decreased circulating antibody level, Skin ulcer, Leukop... |
ORPHA:33355 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia |
OMIM:236750 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Tempi Syndrome |
|
Transudative pleural effusion, Facial erythema, Intracranial hemorrhage, Increased circulating Ig... |
ORPHA:284227 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Rosaï-Dorfman Disease |
|
Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Autosomal Erythropoietic Protoporphyria |
|
Edema, Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased... |
OMIM:133100 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Purpura, Abnormality of neutrophils, Periorbital edema, Splenome... |
ORPHA:33226 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... |
OMIM:301082 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel... |
OMIM:187800 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Lymphangiectasis, Edema, Lymphedema |
ORPHA:182 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis... |
ORPHA:158029 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema |
OMIM:616570 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis... |
OMIM:226300 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Generalized edema |
OMIM:207731 |
Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Bicornuate uterus, Abnormality of the uterus, Iris coloboma |
ORPHA:2143 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circulating IgM ... |
ORPHA:37748 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Edema, Erythema, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Edema, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal lymp... |
ORPHA:2584 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Pallor, T... |
ORPHA:90045 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Dehydration |
ORPHA:28 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thromboc... |
ORPHA:858 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi... |
OMIM:308240 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, ... |
OMIM:618116 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... |
OMIM:226990 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:3386 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Edema, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver fun... |
ORPHA:90051 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Erythema, Edema |
OMIM:154800 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Dehydration, Anemia, Stroke, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Splenomegaly, Ascites, Anemia, Oligohydramnios |
ORPHA:1046 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Anemia, Purpura |
OMIM:614514 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema |
OMIM:223350 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Thrombocytopenia 5 |
|
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ... |
OMIM:617021 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Pallor, Pleura... |
ORPHA:60041 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenome... |
OMIM:235255 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia |
ORPHA:75233 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... |
OMIM:314050 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Dehydration, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Foam cells, Decreased circulating... |
OMIM:619802 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Leukocytosis, Jaundice, L... |
ORPHA:20 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... |
ORPHA:2035 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Dry skin, Lymphadenopathy, Abnorma... |
ORPHA:39041 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... |
ORPHA:229717 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia, Edema |
ORPHA:329971 |
Cinca Syndrome |
|
Eosinophilia, Lymphedema, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi... |
OMIM:614742 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Patent ductus arteriosus, Cholestasis, Anemia, Decreased liver function, Neo... |
OMIM:608104 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Reduced natural killer cell activity, Spl... |
ORPHA:540 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Ascites, Anemia, Edema |
OMIM:603278 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Tularemia |
|
Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphol... |
ORPHA:3392 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepat... |
OMIM:606003 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Sézary Syndrome |
|
Hepatomegaly, Edema, Abnormal immunoglobulin level, Splenomegaly, Dry skin, Lymphadenopathy, Abno... |
ORPHA:3162 |
Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Absence of lymph node germinal cen... |
ORPHA:90186 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Intracranial hemorrhage, Pallor, Neutrophilia, Leukocyt... |
ORPHA:3260 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Edema, Splenomegaly, Erythema, Lymphadenopathy |
OMIM:619183 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Persistent left superior... |
OMIM:619151 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Wells Syndrome |
|
Skin vesicle, Vasculitis, Eosinophilia, Edema |
ORPHA:901 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Leukocytosis, Dehydration, Pallor, Thrombocytosis |
ORPHA:134 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Thyroid lymphangiectasia, Lymphedema, Pe... |
OMIM:235510 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Anemi... |
ORPHA:77259 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Anemia |
ORPHA:3405 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... |
OMIM:194072 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Leukocytosis... |
ORPHA:292 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Nonimmune hydrops fetalis, Pure red cell aplasia, ... |
ORPHA:124 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... |
ORPHA:288 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Edema, Microcytic anemia, Venous insufficiency, P... |
ORPHA:90308 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg... |
OMIM:170100 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Edema, Reduced natural killer cell act... |
OMIM:603553 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... |
OMIM:616050 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy, Abn... |
ORPHA:1451 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m... |
ORPHA:99868 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Abnormality... |
ORPHA:314478 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Rhabdoid Tumor |
|
Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of the liver |
ORPHA:69077 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th... |
ORPHA:88 |
Dermatitis Herpetiformis |
|
Skin vesicle, Erythema, Edema, Microcytic anemia |
ORPHA:1656 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno... |
OMIM:304790 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Periorbital edema, Splenomegaly, Lymphadenopathy, An... |
OMIM:617591 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Tufted Angioma |
|
Anemia, Petechiae, Thrombocytopenia, Purpura |
ORPHA:1063 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati... |
OMIM:618805 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts, Pallor, Intrahepatic bile duct dilatation, Vascular dilatation |
OMIM:616307 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Sitosterolemia 1 |
|
Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomat... |
OMIM:210250 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet... |
OMIM:300367 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Lymphocytosi... |
ORPHA:514 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Bazex Syndrome |
|
Scaling skin, Anemia, Edema |
ORPHA:166113 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Fumarase Deficiency |
|
Polyhydramnios, Intrahepatic cholestasis, Ascites, Pallor, Hepatic failure, Polycythemia |
OMIM:606812 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Nonimmune hydrops fetalis, Decreased liver function, Anemia |
OMIM:618835 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Nonimmune hydrops fetalis, Decreased liver function, Anemia |
OMIM:618839 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pul... |
ORPHA:1655 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation, Anemia, Neutropenia |
OMIM:617056 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... |
OMIM:267700 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Microphthalmia, Occipital encephalocele, Bile duct proliferation |
OMIM:611561 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Ascites, Decreased circulating IgE, Decreased p... |
OMIM:615758 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal vascular morphology, Splenomegaly, Pericard... |
ORPHA:781 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia,... |
OMIM:227645 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Edema, Fluctuating splenomegaly, Fl... |
OMIM:610377 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Bicornuate uterus, Retinal dystrophy, Iris coloboma |
OMIM:222448 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab... |
ORPHA:47612 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios, Hepatomegaly |
OMIM:619053 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Anemi... |
OMIM:227646 |
Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus |
OMIM:263210 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Petechiae, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Ecchymos... |
ORPHA:520 |
Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... |
ORPHA:31150 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Lymp... |
ORPHA:2136 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia |
ORPHA:30 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Coarctation of aorta, Persis... |
OMIM:105650 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Edema, Leukocytosis, Pleural empyema, Pallor, Pancreatitis, Thro... |
ORPHA:544482 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Lymph... |
ORPHA:160 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Macular edema, Stroke,... |
ORPHA:892 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Hepatomegaly |
OMIM:613730 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Edema, Leukocytosis, Ascites, Anemia |
ORPHA:2070 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Good Syndrome |
|
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo... |
ORPHA:169105 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, Hypoplastic ... |
OMIM:185070 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Pulmonary artery stenosis, Lymphadenopathy, Pallor, Anemia |
ORPHA:667 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten... |
OMIM:615688 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Anemia |
OMIM:618838 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Non-Functioning Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:94080 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia |
OMIM:603194 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Palpebral edema, Lymphedema |
OMIM:137940 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Nodular regenerative hyperplasia of liver, Abnormal retinal vascular mo... |
ORPHA:247691 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:2117 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec... |
OMIM:260400 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod... |
OMIM:300755 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Peripheral arterial stenosis, ... |
ORPHA:90041 |
Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis |
OMIM:164745 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Pleural empyema, Pleura... |
ORPHA:67 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Intermittent thrombocytopenia, Perianal abscess, Eryth... |
OMIM:612541 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Dehydration, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Spleno... |
ORPHA:50918 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia |
OMIM:611134 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the uterus, Rod-cone dystrophy, Vaginal atresia |
ORPHA:2237 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios |
ORPHA:2189 |
Gracile Bone Dysplasia |
|
Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites |
OMIM:602361 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy, Chordee, Micropenis, Ir... |
OMIM:309801 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of ... |
ORPHA:93111 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Biliary tract abnormality |
ORPHA:3191 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Dehydration |
OMIM:214150 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Edema |
ORPHA:2505 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Polyhydramnios, Congenital hypoplastic anemia, Patent ductus arterios... |
OMIM:619488 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Retinal dystrophy, Bicornuate uterus, Labial hypoplasia, Macular dystrophy, Clitoral hypertrophy |
ORPHA:140952 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Oligohydramnios |
ORPHA:228390 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
Costello Syndrome |
|
Lymphangiectasis, Polyhydramnios |
OMIM:218040 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Precocious... |
ORPHA:275761 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hydrops fetalis, Anemia, Increase... |
ORPHA:77261 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Monosomy 18P |
|
Microphthalmia, Lymphedema |
ORPHA:1598 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Hydrops fetalis |
ORPHA:3378 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:614219 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pulmonary arter... |
OMIM:265380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Hypoplasia of the uterus, Hypoplastic labia majora, Clitoral hypoplasia, Gonada... |
OMIM:618419 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Adams-Oliver Syndrome |
|
Encephalocele, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia, Ascites |
ORPHA:974 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Transient ischemic attack, Lung abscess, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:618494 |
Joubert Syndrome 37 |
|
Microphthalmia, Hepatomegaly |
OMIM:619185 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Matthew-Wood Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann... |
ORPHA:2470 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ... |
OMIM:137920 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Pagod Syndrome |
|
Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genital... |
ORPHA:991 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta, Anemia |
OMIM:208060 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Cutis laxa, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Throm... |
OMIM:222700 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microphthalmia |
OMIM:612379 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia |
OMIM:613550 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Cyclopia, Bicornuate uterus, Micropenis |
OMIM:264480 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Ascites, Pancre... |
OMIM:276700 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:276621 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Hepatic fibrosis, Microphthalmia, Oligohy... |
OMIM:619879 |
Prune Belly Syndrome |
|
Decreased testicular size, Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly |
ORPHA:2970 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Pallor, Stroke-like episode |
ORPHA:137675 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia |
ORPHA:370959 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Spina bifida, Asplenia, Hydrops fetalis, Abnormal liver lobulation, Microphthalmi... |
ORPHA:99776 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Abnormality of the uterus |
ORPHA:59315 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Polyhydramnios |
OMIM:616920 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
46,Xx Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus |
ORPHA:243 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic ... |
ORPHA:564 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Blau Syndrome |
|
Splenomegaly, Erythema, Xerostomia, Large vessel vasculitis, Lymphadenopathy, Skin ulcer, Joint s... |
ORPHA:90340 |
Microsporidiosis |
|
Cholangitis, Abnormality of the spleen, Peritonitis, Biliary tract abnormality, Hepatitis, Abnorm... |
ORPHA:2552 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... |
OMIM:175050 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Splenic rupture |
ORPHA:335 |
Meacham Syndrome |
|
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus |
OMIM:608978 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:29072 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy |
OMIM:300707 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Meningocele |
OMIM:614424 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Polyhydramnios |
ORPHA:3301 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Esophageal Atresia |
|
Tetralogy of Fallot, Pallor, Polyhydramnios, Coarctation of aorta |
ORPHA:1199 |
Refsum Disease |
|
Splenomegaly, Microphthalmia |
ORPHA:773 |
Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Bicornuate uterus, Hypoplasia of the ovary, Hepatic cysts |
ORPHA:79328 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Lymphangioleiomyomatosis |
|
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... |
ORPHA:538 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Mosaic Trisomy 1 |
|
Microphthalmia, Increased nuchal translucency, Polyhydramnios, Hepatic agenesis |
ORPHA:1692 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Polyhydramnios, Edema |
OMIM:302960 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of th... |
OMIM:614527 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina |
OMIM:617925 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Sple... |
OMIM:270400 |
Fryns Syndrome |
|
Cryptorchidism, Bicornuate uterus, Hypospadias |
ORPHA:2059 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... |
OMIM:269150 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Oligohydramnios |
OMIM:613451 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Spina bifida, Polyhydramnios |
ORPHA:3412 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Cervical lymphadenopathy, Pallor |
ORPHA:653 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Edema, Oligohydramnios |
OMIM:617729 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Fanconi Anemia |
|
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Abnormality of the liver... |
ORPHA:84 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum |
ORPHA:2745 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system |
OMIM:620185 |
Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Uterus didelphys |
OMIM:200980 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Oligohydramnios |
OMIM:251230 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... |
OMIM:263650 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Biliary atresia |
OMIM:115470 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly |
OMIM:619148 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Polyspl... |
OMIM:229850 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
Papillorenal Syndrome |
|
Microphthalmia, Edema |
OMIM:120330 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Spina bifida, Hypoplasia of the iris, Umbilical hernia, Microphthalmia |
ORPHA:2092 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Micropenis, Hypospadias, Endometriosis |
ORPHA:363444 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios |
ORPHA:2166 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Transient ischemic attack, Cerebral arteriovenous malformation, Pulmonary arteriov... |
OMIM:600376 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pulmonary artery stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Supra... |
ORPHA:99125 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus |
ORPHA:3440 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm... |
OMIM:261540 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, Sp... |
OMIM:249000 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Transient ischemic attack, Cerebral arteriovenous malformation, Pulmonary arteriov... |
OMIM:187300 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Polyhydramnios |
OMIM:603467 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... |
OMIM:300166 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Trisomy 18 |
|
Microphthalmia, Anencephaly, Spina bifida, Oligohydramnios |
ORPHA:3380 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Oligohydramnios |
OMIM:251300 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Hep... |
OMIM:620005 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... |
OMIM:618280 |
Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Cholelithiasis |
ORPHA:464738 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrops fetalis |
ORPHA:268249 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Oligohydramnios |
ORPHA:364577 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Bilateral microphthalmos, Spina bifida |
ORPHA:2839 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... |
ORPHA:2052 |
Stromme Syndrome |
|
Accessory spleen, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Abnormality of the spleen, Spinal dysraphism, Branchial anomaly, Mic... |
ORPHA:2162 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Increased nuchal translucency, Ascites, Polyhydramnios |
ORPHA:1052 |
Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia |
ORPHA:464 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
Fraser Syndrome 1 |
|
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy |
OMIM:219000 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... |
ORPHA:2232 |
Okamoto Syndrome |
|
Splenomegaly, Bifid uterus |
ORPHA:2729 |
Cousin Syndrome |
|
Hydranencephaly, Microphthalmia |
OMIM:260660 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Spina bifida |
OMIM:234100 |
Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder |
OMIM:184705 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... |
OMIM:256520 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:617666 |
Jacobsen Syndrome |
|
Microphthalmia, Annular pancreas, Macular hypoplasia |
OMIM:147791 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Ulnar-Mammary Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Abnormality of the uterus |
ORPHA:3138 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia |
OMIM:616300 |
Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... |
OMIM:268300 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Uterus ... |
ORPHA:93271 |
Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Hypoplasia of the uterus, Clitoral hypoplasia, Iris c... |
ORPHA:709 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Spina bifida, Exocrine pancreatic insufficiency |
ORPHA:508498 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Spina bifida, Splenomegaly, Meningocele, Occipital myelomeningocele, Umbilical he... |
ORPHA:567 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly |
ORPHA:2538 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly |
OMIM:274000 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:250989 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Apl... |
OMIM:194190 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dehydration, Buphthalmos, Joint swelling, Umbilical hernia, Microphthalmia |
ORPHA:534 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Spina bifida |
OMIM:109400 |
Ulnar-Mammary Syndrome |
|
Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen |
OMIM:181450 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Microphthalmia, Polyhydramnios, Prolonged neonatal jaundice |
OMIM:620186 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Portal hypertension, Cryptorchidism, Cholestasis, Hepatosplenomegaly, Unicornuate uterus, Micrope... |
OMIM:619503 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia, Spina bifida |
OMIM:304050 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Annular pancreas |
OMIM:268400 |
Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Microphthalmia, Splenomegaly, Hepatomegaly |
ORPHA:90324 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia, Splenomegaly, Hepatomegaly |
OMIM:133540 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... |
ORPHA:857 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Abdominal situs inversus |
ORPHA:2108 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Trichothiodystrophy |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:33364 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia |
ORPHA:50 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Annular pancreas |
OMIM:616975 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Absent gallbladder |
ORPHA:3186 |
Holoprosencephaly 7 |
|
Occipital meningocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Roberts Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3103 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Bilateral microphthalmos, Hydrops fetalis, Microph... |
ORPHA:3472 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Fontaine Progeroid Syndrome |
|
Microphthalmia, Umbilical hernia, Oligohydramnios |
OMIM:612289 |
Cockayne Syndrome |
|
Splenomegaly, Microphthalmia, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:191 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Oligohydramnios |
OMIM:608670 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the uterus, Enlarged polycystic ... |
ORPHA:201 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:613884 |
Myhre Syndrome |
|
Pericardial effusion, Microphthalmia |
OMIM:139210 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, True anophthalmia |
ORPHA:1106 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Bicornuate uterus |
ORPHA:2363 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Polyhydramnios |
ORPHA:138 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta |
OMIM:305600 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Tuberous Sclerosis 1 |
|
Pulmonary lymphangiomyomatosis |
OMIM:191100 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Optic disc pallor, Uterine prolapse, Cryptorchidism |
ORPHA:438213 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia |
OMIM:273395 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Umbilical hernia, Microphthalmia |
OMIM:214800 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Optic nerve hypoplasia, Exocrine pancreatic insufficiency, Bilateral microphthalm... |
ORPHA:508488 |
Tuberous Sclerosis 2 |
|
Pulmonary lymphangiomyomatosis |
OMIM:613254 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Witteveen-Kolk Syndrome |
|
Microphthalmia, Polyhydramnios, Branchial fistula |
OMIM:613406 |
Tuberous Sclerosis Complex |
|
Aortic aneurysm, Hepatic cysts, Pulmonary lymphangiomyomatosis |
ORPHA:805 |
Pallister-Hall Syndrome |
|
Microphthalmia, Umbilical hernia, Oligohydramnios |
ORPHA:672 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Abnormality of the ut... |
ORPHA:199 |
Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Cervical insufficiency |
ORPHA:287 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Branchial anomaly, Anophthalmia |
OMIM:113620 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse |
ORPHA:284984 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
Loeys-Dietz Syndrome 3 |
|
Uterine prolapse, Cystocele |
OMIM:613795 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Microphthalmia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Asplenia, Microphthalmia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Microphthalmia |
ORPHA:261552 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |